| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7809893C>G | CA355002 | PER3 | c.1243C>G (p.Pro415Ala) c.1240C>G (p.Pro414Ala) n.261C>G c.286C>G (p.Pro96Ala) c.718C>G (p.Pro240Ala) c.1075C>G (p.Pro359Ala) c.895C>G (p.Pro299Ala) c.880C>G (p.Pro294Ala) c.-129C>G (n.-129C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7809893C= | CA1142387722 | PER3 | c.1243C= (p.Pro415=) c.1240C= (p.Pro414=) n.261C= c.286C= (p.Pro96=) c.718C= (p.Pro240=) c.1075C= (p.Pro359=) c.895C= (p.Pro299=) c.880C= (p.Pro294=) c.-129C= (n.-129C=) | dbSNP |
| 1 | g.7809893C>A | CA338139589 | PER3 | c.1243C>A (p.Pro415Thr) c.1240C>A (p.Pro414Thr) n.261C>A c.286C>A (p.Pro96Thr) c.718C>A (p.Pro240Thr) c.1075C>A (p.Pro359Thr) c.895C>A (p.Pro299Thr) c.880C>A (p.Pro294Thr) c.-129C>A (n.-129C>A) | dbSNP gnomAD v4 |